12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Case Rep Genet
Autori principali: Mc Cormack, Adrian, Sharpe, Cynthia, Gregersen, Nerine, Smith, Warwick, Hayes, Ian, George, Alice M., Love, Donald R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2015
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525753/
https://ncbi.nlm.nih.gov/pubmed/26266063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/192071
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi